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Scientific Newsletter

The Protein Pages

Prominin (mouse)-like 1
(PROML1)

To see compiled data on further species click on the topics.
To see the reference for the human data click on the data

Editor's Notes from the Literature

Recent update from: 04.06.2000

Description

PROML1 is a protein involved either in the generation of plasma membrane evaginations or in membrane remodelling on formation of a disk rim and closed disks of rod photoreceptors.

  • GENE DATA

    Exons: 23

    Markers / RFLPs: D4S1602
    AFM212yg7
    D4S2960
    D4S1601
    [PROML1, D4S3048]
    D4S1567
    D4S419
    D4S230

    Transcripts:

    Regulatory elements:

    Primers: Mutated exon

    		• Chromosome 4 with PROML1
    Assignment: 4p16 Involvement in Retinal Degenerations:

    click here to see a compilation of

    CLICK

    several Mutations found to underlie

    autosomal recessive
    Retinal Degeneration

    PROTEIN DATA
    Subunits: 1 Amino acids:
    Modifications:

    Variable glycosylated

    		Mr/ Weight:


    Cofactors:



    PROTEIN DATA

    Click on entry to see database record online
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    Protein Subtype Locus Species EC-No. Swissprot PIR Prosite

    GENE DATA

    Click on entry to see database record online
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    Gene Subtype Locus Species Genbank Unigene Medline

    GENE LOCUS DATA

    Click on entry to see database record online
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    Gene Subtype Locus Species Genome Database Mouse Genome Database OMIM Locus Link

    References:

    1. Maw, M.A., Corbeil, D., Koch, J., Hellwig, A., Wilson-Wheeler, J.C., Bridges, R.J., Kumaramanickavel, G., John, S., Nancarrow, D., Röper, K., Weigmann, A., Huttner, W.B., and Denton, M.J. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. 2000; Hum.Mol.Genet. 9: 27 - 34.
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    Contact the editor: irpamp@irpa.org     		This site is maintained and edited by
    Dr. rer. medic. Markus Preising, Dipl.Biol.
    Molecular Genetics Laboratory
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
    University of Regensburg
    Head: Prof. Dr. med. Birgit Lorenz